H5Y (p.His5Tyr) variant of IFT172 (Q9UG01)
H5Y (p.His5Tyr) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- cosmic curated COSV10635
- ExAC rs754840856
- gnomAD rs754840856
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.10
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available